Variant report

Variant	rs9320605
Chromosome Location	chr6:117817775-117817776
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:117813405..117815886-chr6:117817206..117818721,2	MCF-7	breast:
2	chr6:117801194..117803836-chr6:117817608..117819346,2	K562	blood:
3	chr6:117810311..117812816-chr6:117817212..117819434,2	MCF-7	breast:
4	chr6:117814171..117818032-chr6:117819476..117821620,3	MCF-7	breast:
5	chr6:117811079..117813216-chr6:117816272..117818374,2	MCF-7	breast:
6	chr6:117803821..117805941-chr6:117815599..117818460,3	MCF-7	breast:
7	chr6:117816660..117818857-chr6:117829332..117832262,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164465	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10081022	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10484301	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs10872154	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11153674	1.00[CHB][hapmap]
rs12182049	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12192117	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12193035	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12196716	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12197399	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12200953	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12205852	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12208894	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12210860	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17637404	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17818735	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2134088	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs72961480	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72963407	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7745302	1.00[JPT][hapmap]
rs916305	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs929059	1.00[JPT][hapmap]
rs9481727	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489124	1.00[CHB][hapmap]
rs9489143	1.00[CHB][hapmap]
rs9489211	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489215	1.00[GIH][hapmap]
rs9688605	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs9766117	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9766656	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9766945	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9766959	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9767675	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532050	chr6:117528154-118203005	ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117805200-117819400	Weak transcription	Small Intestine	intestine
2	chr6:117805200-117825600	Weak transcription	Lung	lung
3	chr6:117805200-117826600	Weak transcription	Esophagus	oesophagus
4	chr6:117805200-117851200	Weak transcription	Right Ventricle	heart
5	chr6:117805400-117819400	Weak transcription	Aorta	Aorta
6	chr6:117805600-117818800	Weak transcription	Fetal Kidney	kidney
7	chr6:117805600-117819400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr6:117805800-117825600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr6:117805800-117826200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr6:117806200-117819600	Weak transcription	Psoas Muscle	Psoas
11	chr6:117806200-117826400	Weak transcription	Fetal Muscle Leg	muscle
12	chr6:117806200-117826600	Weak transcription	Pancreas	Pancrea
13	chr6:117808600-117819400	Weak transcription	Spleen	Spleen
14	chr6:117808600-117819600	Weak transcription	Fetal Stomach	stomach
15	chr6:117808800-117824400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:117808800-117826800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:117812400-117817800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:117812800-117820000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:117813600-117820600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr6:117814400-117820400	Enhancers	Fetal Lung	lung
21	chr6:117815000-117819400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr6:117815000-117825600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:117815600-117821200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:117816000-117818800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:117816200-117819400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:117816400-117817800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr6:117816400-117818200	Weak transcription	Adipose Nuclei	Adipose
28	chr6:117816400-117818200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr6:117816400-117818600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:117816400-117819200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:117816400-117819200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr6:117816400-117819400	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr6:117816400-117819400	Enhancers	GM12878-XiMat	blood
34	chr6:117816400-117819400	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr6:117816400-117820200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr6:117816400-117820400	Enhancers	Osteobl	bone
37	chr6:117816400-117821200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr6:117816400-117827800	Weak transcription	Right Atrium	heart
39	chr6:117816400-117828000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr6:117816400-117828600	Weak transcription	K562	blood
41	chr6:117816400-117841400	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr6:117816600-117819200	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr6:117816800-117818000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:117816800-117825600	Weak transcription	Left Ventricle	heart
45	chr6:117816800-117827800	Weak transcription	Gastric	stomach
46	chr6:117817200-117817800	Enhancers	HUVEC	blood vessel
47	chr6:117817200-117818200	Flanking Active TSS	NHEK	skin
48	chr6:117817400-117817800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr6:117817400-117817800	Flanking Active TSS	HSMM	muscle
50	chr6:117817400-117818000	Enhancers	Stomach Mucosa	stomach

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